ClinVar Miner

List of variants in gene MYPN studied for muscle tissue disorder

Included ClinVar conditions (1088):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1096
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_032578.4(MYPN):c.3286-28G>T rs7079549 0.64847
NM_032578.4(MYPN):c.2565-21A>G rs7097776 0.64504
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_032578.4(MYPN):c.1130+17G>A rs2817760 0.26147
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_032578.4(MYPN):c.1869C>A (p.Thr623=) rs61854624 0.12645
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_032578.4(MYPN):c.1251G>A (p.Gln417=) rs10997948 0.10147
NM_032578.4(MYPN):c.1245+17G>A rs2200897 0.09036
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_032578.4(MYPN):c.2886= (p.Val962=) rs10733838 0.01557
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_032578.4(MYPN):c.-2+9C>T rs75716608 0.00900
NM_032578.4(MYPN):c.1600+21G>C rs41278498 0.00739
NM_032578.4(MYPN):c.3493+11C>T rs113674647 0.00520
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) rs150404143 0.00321
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_032578.4(MYPN):c.1122G>A (p.Glu374=) rs145103325 0.00101
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_032578.4(MYPN):c.465C>G (p.Ala155=) rs142867001 0.00099
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly) rs143574079 0.00093
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) rs138583865 0.00076
NM_032578.4(MYPN):c.2703+13G>A rs375320760 0.00063
NM_032578.4(MYPN):c.2925+18C>T rs372714890 0.00063
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser) rs201454261 0.00057
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_032578.4(MYPN):c.1944G>A (p.Glu648=) rs151017803 0.00041
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu) rs148942084 0.00026
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr) rs140933016 0.00024
NM_032578.4(MYPN):c.2229G>A (p.Pro743=) rs148360410 0.00022
NM_032578.4(MYPN):c.2725G>A (p.Glu909Lys) rs1371494498 0.00022
NM_032578.4(MYPN):c.3660-14C>T rs376460992 0.00021
NM_032578.4(MYPN):c.952G>A (p.Val318Ile) rs112518450 0.00021
NM_032578.4(MYPN):c.1900G>A (p.Gly634Arg) rs148407539 0.00016
NM_032578.4(MYPN):c.2976C>T (p.Cys992=) rs768202837 0.00016
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile) rs199853307 0.00016
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_032578.4(MYPN):c.1483+11T>C rs765156367 0.00013
NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln) rs548318517 0.00013
NM_032578.4(MYPN):c.2877C>T (p.Gly959=) rs550033843 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_032578.4(MYPN):c.2742T>C (p.Asn914=) rs372375235 0.00011
NM_032578.4(MYPN):c.3504G>A (p.Val1168=) rs755327022 0.00011
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His) rs372512501 0.00011
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln) rs761812034 0.00011
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu) rs201203517 0.00011
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_032578.4(MYPN):c.1725A>G (p.Lys575=) rs143213775 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00009
NM_032578.4(MYPN):c.3567G>A (p.Val1189=) rs1308500781 0.00009
NM_032578.4(MYPN):c.2876G>A (p.Gly959Asp) rs771893315 0.00008
NM_032578.4(MYPN):c.3793+4A>G rs145946587 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala) rs370768715 0.00007
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00007
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile) rs71584493 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_032578.4(MYPN):c.420T>C (p.Tyr140=) rs71578990 0.00007
NM_032578.4(MYPN):c.660G>A (p.Arg220=) rs372218308 0.00007
NM_032578.4(MYPN):c.1046C>A (p.Thr349Lys) rs763819518 0.00006
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.1839C>T (p.Ser613=) rs140063470 0.00006
NM_032578.4(MYPN):c.1851G>A (p.Val617=) rs751087472 0.00006
NM_032578.4(MYPN):c.1890G>A (p.Glu630=) rs201960380 0.00006
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe) rs376141715 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032578.4(MYPN):c.2974T>G (p.Cys992Gly) rs367955895 0.00006
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn) rs201600440 0.00006
NM_032578.4(MYPN):c.3493+10G>T rs780545084 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352 0.00006
NM_032578.4(MYPN):c.597C>T (p.Phe199=) rs778049757 0.00006
NM_032578.4(MYPN):c.1245+16C>T rs377456805 0.00005
NM_032578.4(MYPN):c.1536C>T (p.Cys512=) rs569718340 0.00005
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala) rs144031245 0.00005
NM_032578.4(MYPN):c.2093A>G (p.Asn698Ser) rs181355189 0.00005
NM_032578.4(MYPN):c.2654G>A (p.Arg885Gln) rs370657396 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_032578.4(MYPN):c.3357C>T (p.His1119=) rs766405779 0.00005
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=) rs202183926 0.00005
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=) rs139820597 0.00005
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala) rs199476406 0.00004
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu) rs780297988 0.00004
NM_032578.4(MYPN):c.1560A>G (p.Lys520=) rs199809622 0.00004
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys) rs367570424 0.00004
NM_032578.4(MYPN):c.1936G>A (p.Val646Met) rs772535532 0.00004
NM_032578.4(MYPN):c.194C>T (p.Ala65Val) rs147553723 0.00004
NM_032578.4(MYPN):c.1973+10A>T rs756078237 0.00004
NM_032578.4(MYPN):c.2105C>T (p.Ala702Val) rs144822514 0.00004
NM_032578.4(MYPN):c.2106G>A (p.Ala702=) rs560387426 0.00004
NM_032578.4(MYPN):c.2133G>A (p.Lys711=) rs370032844 0.00004
NM_032578.4(MYPN):c.2199C>T (p.Thr733=) rs778525926 0.00004
NM_032578.4(MYPN):c.2565-7C>T rs373241021 0.00004
NM_032578.4(MYPN):c.2709C>T (p.Tyr903=) rs772657844 0.00004
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln) rs768452699 0.00004
NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu) rs201693405 0.00004
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His) rs531222847 0.00004
NM_032578.4(MYPN):c.3420C>T (p.Asp1140=) rs200786762 0.00004
NM_032578.4(MYPN):c.3438C>T (p.Cys1146=) rs369746212 0.00004
NM_032578.4(MYPN):c.3659+14C>T rs370172180 0.00004
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_032578.4(MYPN):c.3756C>T (p.Ala1252=) rs765512505 0.00004
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg) rs573684358 0.00004
NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys) rs148034353 0.00004
NM_032578.4(MYPN):c.1013G>A (p.Arg338His) rs149852773 0.00003
NM_032578.4(MYPN):c.1272G>A (p.Gln424=) rs769175475 0.00003
NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser) rs951303629 0.00003
NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg) rs1346961662 0.00003
NM_032578.4(MYPN):c.1899C>T (p.Asn633=) rs147500426 0.00003
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) rs141276802 0.00003
NM_032578.4(MYPN):c.2156G>C (p.Ser719Thr) rs780584298 0.00003
NM_032578.4(MYPN):c.2429G>A (p.Arg810His) rs1021994218 0.00003
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr) rs199476411 0.00003
NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala) rs139996402 0.00003
NM_032578.4(MYPN):c.2972A>G (p.His991Arg) rs181021602 0.00003
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=) rs1321971649 0.00003
NM_032578.4(MYPN):c.3125G>A (p.Arg1042His) rs140439935 0.00003
NM_032578.4(MYPN):c.3228G>T (p.Leu1076=) rs746111226 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=) rs759420426 0.00003
NM_032578.4(MYPN):c.3552C>T (p.Pro1184=) rs749396604 0.00003
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=) rs876657538 0.00003
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys) rs768630077 0.00003
NM_032578.4(MYPN):c.3837C>T (p.Pro1279=) rs774279751 0.00003
NM_032578.4(MYPN):c.519T>G (p.Ile173Met) rs769771296 0.00003
NM_032578.4(MYPN):c.650C>T (p.Ala217Val) rs199476403 0.00003
NM_032578.4(MYPN):c.714G>A (p.Ala238=) rs757661676 0.00003
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu) rs138187845 0.00003
NM_032578.4(MYPN):c.1088C>T (p.Ser363Phe) rs760566381 0.00002
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro) rs535795936 0.00002
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) rs764775347 0.00002
NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter) rs781261060 0.00002
NM_032578.4(MYPN):c.1196C>T (p.Pro399Leu) rs142973768 0.00002
NM_032578.4(MYPN):c.1200A>G (p.Gln400=) rs768030641 0.00002
NM_032578.4(MYPN):c.1226G>A (p.Arg409His) rs200352249 0.00002
NM_032578.4(MYPN):c.1317+7A>C rs751723015 0.00002
NM_032578.4(MYPN):c.1483+1G>A rs112016439 0.00002
NM_032578.4(MYPN):c.1483+6G>C rs775382618 0.00002
NM_032578.4(MYPN):c.1593C>T (p.His531=) rs138354021 0.00002
NM_032578.4(MYPN):c.1716A>C (p.Gln572His) rs567930066 0.00002
NM_032578.4(MYPN):c.1737G>A (p.Glu579=) rs1217740747 0.00002
NM_032578.4(MYPN):c.1803C>A (p.Asn601Lys) rs1327960422 0.00002
NM_032578.4(MYPN):c.1966C>T (p.Pro656Ser) rs930830802 0.00002
NM_032578.4(MYPN):c.2164C>T (p.Arg722Trp) rs749716608 0.00002
NM_032578.4(MYPN):c.2189C>T (p.Thr730Met) rs373040567 0.00002
NM_032578.4(MYPN):c.2240T>C (p.Leu747Ser) rs758580382 0.00002
NM_032578.4(MYPN):c.2246G>A (p.Ser749Asn) rs780085391 0.00002
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys) rs369380120 0.00002
NM_032578.4(MYPN):c.2516C>A (p.Ala839Asp) rs757190838 0.00002
NM_032578.4(MYPN):c.2695A>C (p.Asn899His) rs774900760 0.00002
NM_032578.4(MYPN):c.2704-17G>A rs367814057 0.00002
NM_032578.4(MYPN):c.2816C>T (p.Thr939Met) rs778346244 0.00002
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser) rs377389861 0.00002
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala) rs778178863 0.00002
NM_032578.4(MYPN):c.3105G>A (p.Met1035Ile) rs764549639 0.00002
NM_032578.4(MYPN):c.3130C>T (p.Arg1044Trp) rs565591812 0.00002
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) rs142874859 0.00002
NM_032578.4(MYPN):c.3350C>T (p.Ala1117Val) rs762950668 0.00002
NM_032578.4(MYPN):c.336T>C (p.Ser112=) rs769858127 0.00002
NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe) rs753388438 0.00002
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys) rs548754907 0.00002
NM_032578.4(MYPN):c.3628G>A (p.Glu1210Lys) rs779000111 0.00002
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=) rs773992843 0.00002
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=) rs533708375 0.00002
NM_032578.4(MYPN):c.3832C>T (p.Arg1278Trp) rs763054747 0.00002
NM_032578.4(MYPN):c.3911C>T (p.Thr1304Met) rs749719592 0.00002
NM_032578.4(MYPN):c.3924A>G (p.Ser1308=) rs1225365091 0.00002
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) rs199476401 0.00002
NM_032578.4(MYPN):c.466G>A (p.Asp156Asn) rs1279871963 0.00002
NM_032578.4(MYPN):c.526C>T (p.Arg176Cys) rs773154410 0.00002
NM_032578.4(MYPN):c.588C>T (p.Ser196=) rs753313639 0.00002
NM_032578.4(MYPN):c.641C>T (p.Pro214Leu) rs1406498336 0.00002
NM_032578.4(MYPN):c.642T>C (p.Pro214=) rs769861237 0.00002
NM_032578.4(MYPN):c.748A>C (p.Thr250Pro) rs770824805 0.00002
NM_032578.4(MYPN):c.948C>T (p.His316=) rs200674758 0.00002
NM_032578.4(MYPN):c.986C>T (p.Ala329Val) rs146148277 0.00002
NM_032578.4(MYPN):c.1019C>G (p.Ser340Cys) rs777080663 0.00001
NM_032578.4(MYPN):c.103G>T (p.Ala35Ser) rs1287546364 0.00001
NM_032578.4(MYPN):c.1052C>T (p.Ser351Leu) rs747136869 0.00001
NM_032578.4(MYPN):c.105G>A (p.Ala35=) rs533632772 0.00001
NM_032578.4(MYPN):c.106G>C (p.Glu36Gln) rs768904251 0.00001
NM_032578.4(MYPN):c.1071T>C (p.Tyr357=) rs1323471969 0.00001
NM_032578.4(MYPN):c.1081G>T (p.Val361Phe) rs527628617 0.00001
NM_032578.4(MYPN):c.1109C>T (p.Pro370Leu) rs749986338 0.00001
NM_032578.4(MYPN):c.112T>A (p.Ser38Thr) rs761950155 0.00001
NM_032578.4(MYPN):c.1130+8T>C rs375465809 0.00001
NM_032578.4(MYPN):c.113C>T (p.Ser38Phe) rs549116983 0.00001
NM_032578.4(MYPN):c.1152G>T (p.Val384=) rs148936510 0.00001
NM_032578.4(MYPN):c.1188A>G (p.Pro396=) rs371437119 0.00001
NM_032578.4(MYPN):c.121C>T (p.Pro41Ser) rs759400657 0.00001
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys) rs757431496 0.00001
NM_032578.4(MYPN):c.1245+19A>G rs773859141 0.00001
NM_032578.4(MYPN):c.1246-2A>G rs1327758535 0.00001
NM_032578.4(MYPN):c.1246-6T>C rs767717878 0.00001
NM_032578.4(MYPN):c.1291A>G (p.Ile431Val) rs2042742128 0.00001
NM_032578.4(MYPN):c.1306G>A (p.Val436Met) rs1172083148 0.00001
NM_032578.4(MYPN):c.133G>C (p.Gly45Arg) rs1297861595 0.00001
NM_032578.4(MYPN):c.1372G>A (p.Val458Ile) rs757231554 0.00001
NM_032578.4(MYPN):c.1431T>C (p.Asp477=) rs1464264584 0.00001
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg) rs770366905 0.00001
NM_032578.4(MYPN):c.1440T>C (p.Asp480=) rs1230149474 0.00001
NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser) rs1016349010 0.00001
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe) rs749716693 0.00001
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp) rs935247269 0.00001
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu) rs1052323892 0.00001
NM_032578.4(MYPN):c.1555A>G (p.Asn519Asp) rs768901494 0.00001
NM_032578.4(MYPN):c.1594G>A (p.Val532Met) rs760362375 0.00001
NM_032578.4(MYPN):c.1600+14A>C rs753375562 0.00001
NM_032578.4(MYPN):c.1609G>T (p.Asp537Tyr) rs745748075 0.00001
NM_032578.4(MYPN):c.1623C>T (p.Asn541=) rs746849244 0.00001
NM_032578.4(MYPN):c.1624G>A (p.Gly542Arg) rs768390862 0.00001
NM_032578.4(MYPN):c.1649C>T (p.Thr550Ile) rs761571128 0.00001
NM_032578.4(MYPN):c.1672C>T (p.Pro558Ser) rs767709261 0.00001
NM_032578.4(MYPN):c.1680C>T (p.Pro560=) rs566128597 0.00001
NM_032578.4(MYPN):c.1681T>C (p.Ser561Pro) rs1554845447 0.00001
NM_032578.4(MYPN):c.1696G>C (p.Glu566Gln) rs1388806519 0.00001
NM_032578.4(MYPN):c.1734C>T (p.Leu578=) rs747764237 0.00001
NM_032578.4(MYPN):c.1749G>A (p.Val583=) rs200760918 0.00001
NM_032578.4(MYPN):c.1763C>T (p.Pro588Leu) rs199936299 0.00001
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly) rs767800921 0.00001
NM_032578.4(MYPN):c.1797C>T (p.His599=) rs757346980 0.00001
NM_032578.4(MYPN):c.1806G>A (p.Leu602=) rs754999743 0.00001
NM_032578.4(MYPN):c.1830A>C (p.Glu610Asp) rs769460067 0.00001
NM_032578.4(MYPN):c.1863A>G (p.Arg621=) rs373826163 0.00001
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn) rs754064567 0.00001
NM_032578.4(MYPN):c.1879T>A (p.Ser627Thr) rs1282443178 0.00001
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys) rs794729072 0.00001
NM_032578.4(MYPN):c.1892G>A (p.Arg631Lys) rs1057520698 0.00001
NM_032578.4(MYPN):c.1918C>T (p.Pro640Ser) rs908222513 0.00001
NM_032578.4(MYPN):c.1932C>T (p.Ser644=) rs187664226 0.00001
NM_032578.4(MYPN):c.1938G>C (p.Val646=) rs776043765 0.00001
NM_032578.4(MYPN):c.1945C>G (p.Pro649Ala) rs761893396 0.00001
NM_032578.4(MYPN):c.1948C>T (p.Pro650Ser) rs763195372 0.00001
NM_032578.4(MYPN):c.1970A>G (p.Lys657Arg) rs1283859977 0.00001
NM_032578.4(MYPN):c.1979C>T (p.Ser660Phe) rs377257378 0.00001
NM_032578.4(MYPN):c.2000A>G (p.His667Arg) rs2043186027 0.00001
NM_032578.4(MYPN):c.2008G>A (p.Val670Ile) rs1331409608 0.00001
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys) rs577089308 0.00001
NM_032578.4(MYPN):c.207A>G (p.Gln69=) rs1488329353 0.00001
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr) rs1386715407 0.00001
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile) rs768471574 0.00001
NM_032578.4(MYPN):c.212A>G (p.Glu71Gly) rs1161067131 0.00001
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) rs876657921 0.00001
NM_032578.4(MYPN):c.2168C>T (p.Pro723Leu) rs550827308 0.00001
NM_032578.4(MYPN):c.2200G>A (p.Ala734Thr) rs927839092 0.00001
NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly) rs2043191140 0.00001
NM_032578.4(MYPN):c.2267G>A (p.Arg756Lys) rs1218456286 0.00001
NM_032578.4(MYPN):c.2273T>C (p.Val758Ala) rs773188742 0.00001
NM_032578.4(MYPN):c.2312A>G (p.Gln771Arg) rs775112774 0.00001
NM_032578.4(MYPN):c.2368A>G (p.Thr790Ala) rs780319735 0.00001
NM_032578.4(MYPN):c.2389T>C (p.Phe797Leu) rs749206570 0.00001
NM_032578.4(MYPN):c.2420T>C (p.Phe807Ser) rs760419556 0.00001
NM_032578.4(MYPN):c.2425C>A (p.Pro809Thr) rs763632315 0.00001
NM_032578.4(MYPN):c.2454T>G (p.Ser818=) rs758819987 0.00001
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp) rs529221329 0.00001
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) rs372903698 0.00001
NM_032578.4(MYPN):c.2515G>A (p.Ala839Thr) rs752773452 0.00001
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr) rs200432306 0.00001
NM_032578.4(MYPN):c.256G>T (p.Asp86Tyr) rs776901756 0.00001
NM_032578.4(MYPN):c.2570C>T (p.Ser857Phe) rs376431940 0.00001
NM_032578.4(MYPN):c.2598G>T (p.Lys866Asn) rs763397921 0.00001
NM_032578.4(MYPN):c.2603C>T (p.Pro868Leu) rs533835950 0.00001
NM_032578.4(MYPN):c.2615A>G (p.Asn872Ser) rs1429733850 0.00001
NM_032578.4(MYPN):c.2629C>T (p.Arg877Cys) rs764042082 0.00001
NM_032578.4(MYPN):c.2643C>T (p.Asn881=) rs777342412 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032578.4(MYPN):c.266A>G (p.Glu89Gly) rs1288647382 0.00001
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln) rs771428473 0.00001
NM_032578.4(MYPN):c.2693C>T (p.Pro898Leu) rs771428473 0.00001
NM_032578.4(MYPN):c.2703+17_2703+19del rs554680048 0.00001
NM_032578.4(MYPN):c.2703+20A>C rs558377291 0.00001
NM_032578.4(MYPN):c.2704-13G>A rs1381527530 0.00001
NM_032578.4(MYPN):c.2704-14T>G rs2043463747 0.00001
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr) rs763043084 0.00001
NM_032578.4(MYPN):c.2729A>G (p.Gln910Arg) rs2043464810 0.00001
NM_032578.4(MYPN):c.2764C>T (p.Arg922Cys) rs759367436 0.00001
NM_032578.4(MYPN):c.2802T>A (p.His934Gln) rs752426180 0.00001
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu) rs1477487826 0.00001
NM_032578.4(MYPN):c.2857C>T (p.His953Tyr) rs1042480350 0.00001
NM_032578.4(MYPN):c.289A>C (p.Arg97=) rs753677566 0.00001
NM_032578.4(MYPN):c.2924A>G (p.Lys975Arg) rs200507694 0.00001
NM_032578.4(MYPN):c.2943T>C (p.Asp981=) rs762543605 0.00001
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr) rs786205348 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_032578.4(MYPN):c.3086G>T (p.Ser1029Ile) rs142320290 0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val) rs758026056 0.00001
NM_032578.4(MYPN):c.312G>A (p.Gln104=) rs571241816 0.00001
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro) rs374007615 0.00001
NM_032578.4(MYPN):c.3145G>C (p.Gly1049Arg) rs770562444 0.00001
NM_032578.4(MYPN):c.3156C>T (p.His1052=) rs876657923 0.00001
NM_032578.4(MYPN):c.3157A>T (p.Arg1053Trp) rs1447577755 0.00001
NM_032578.4(MYPN):c.3159-19A>C rs754950593 0.00001
NM_032578.4(MYPN):c.3159-3T>C rs778831883 0.00001
NM_032578.4(MYPN):c.3159-5T>C rs753674673 0.00001
NM_032578.4(MYPN):c.3159G>A (p.Arg1053=) rs1292473253 0.00001
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg) rs900098416 0.00001
NM_032578.4(MYPN):c.3166T>A (p.Ser1056Thr) rs771847142 0.00001
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe) rs373101027 0.00001
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His) rs763362861 0.00001
NM_032578.4(MYPN):c.3215G>A (p.Arg1072Gln) rs1315597952 0.00001
NM_032578.4(MYPN):c.3244A>G (p.Met1082Val) rs970434165 0.00001
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser) rs748574829 0.00001
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) rs71584501 0.00001
NM_032578.4(MYPN):c.3277G>A (p.Asp1093Asn) rs747760649 0.00001
NM_032578.4(MYPN):c.3286-16T>C rs1273931462 0.00001
NM_032578.4(MYPN):c.3300G>A (p.Pro1100=) rs777293049 0.00001
NM_032578.4(MYPN):c.3378C>T (p.Thr1126=) rs751943423 0.00001
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg) rs752302519 0.00001
NM_032578.4(MYPN):c.339T>C (p.Phe113=) rs773471286 0.00001
NM_032578.4(MYPN):c.3418G>A (p.Asp1140Asn) rs1328837945 0.00001
NM_032578.4(MYPN):c.342G>C (p.Glu114Asp) rs1271454652 0.00001
NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln) rs768125215 0.00001
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg) rs763805681 0.00001
NM_032578.4(MYPN):c.3471T>C (p.Phe1157=) rs1366474190 0.00001
NM_032578.4(MYPN):c.3494-6G>T rs768274852 0.00001
NM_032578.4(MYPN):c.3502G>A (p.Val1168Met) rs752125039 0.00001
NM_032578.4(MYPN):c.3543C>T (p.Cys1181=) rs756337136 0.00001
NM_032578.4(MYPN):c.3544G>A (p.Gly1182Ser) rs777875865 0.00001
NM_032578.4(MYPN):c.3564C>T (p.Pro1188=) rs768400415 0.00001
NM_032578.4(MYPN):c.3565G>A (p.Val1189Met) rs776313364 0.00001
NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr) rs755560876 0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr) rs869025490 0.00001
NM_032578.4(MYPN):c.3611A>C (p.Tyr1204Ser) rs1267268782 0.00001
NM_032578.4(MYPN):c.3612C>T (p.Tyr1204=) rs1457583142 0.00001
NM_032578.4(MYPN):c.3622G>A (p.Asp1208Asn) rs777918680 0.00001
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly) rs2043722325 0.00001
NM_032578.4(MYPN):c.3654G>C (p.Arg1218Ser) rs781011786 0.00001
NM_032578.4(MYPN):c.3659+19C>A rs1465178515 0.00001
NM_032578.4(MYPN):c.3697A>T (p.Ile1233Phe) rs587782969 0.00001
NM_032578.4(MYPN):c.3734C>T (p.Thr1245Met) rs139138260 0.00001
NM_032578.4(MYPN):c.374C>T (p.Pro125Leu) rs367784440 0.00001
NM_032578.4(MYPN):c.3757G>A (p.Gly1253Ser) rs1208726312 0.00001
NM_032578.4(MYPN):c.3767C>T (p.Ser1256Leu) rs542627169 0.00001
NM_032578.4(MYPN):c.3793+13C>T rs187622020 0.00001
NM_032578.4(MYPN):c.3794-8T>C rs778883331 0.00001
NM_032578.4(MYPN):c.3805C>T (p.His1269Tyr) rs746600159 0.00001
NM_032578.4(MYPN):c.3813C>A (p.Ile1271=) rs777067913 0.00001
NM_032578.4(MYPN):c.3819G>A (p.Pro1273=) rs528450397 0.00001
NM_032578.4(MYPN):c.3847C>T (p.Arg1283Cys) rs753787957 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_032578.4(MYPN):c.3902T>C (p.Met1301Thr) rs778106822 0.00001
NM_032578.4(MYPN):c.3922T>C (p.Ser1308Pro) rs1279126604 0.00001
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu) rs781048271 0.00001
NM_032578.4(MYPN):c.3945G>C (p.Val1315=) rs267602553 0.00001
NM_032578.4(MYPN):c.3959T>C (p.Leu1320Pro) rs200646285 0.00001
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr) rs765931465 0.00001
NM_032578.4(MYPN):c.411G>C (p.Arg137Ser) rs751085897 0.00001
NM_032578.4(MYPN):c.42G>A (p.Gln14=) rs760916544 0.00001
NM_032578.4(MYPN):c.437C>T (p.Ser146Phe) rs748438784 0.00001
NM_032578.4(MYPN):c.471C>T (p.Phe157=) rs1484845169 0.00001
NM_032578.4(MYPN):c.47T>C (p.Leu16Pro) rs1241418398 0.00001
NM_032578.4(MYPN):c.480G>A (p.Glu160=) rs1264041775 0.00001
NM_032578.4(MYPN):c.528T>C (p.Arg176=) rs1158680867 0.00001
NM_032578.4(MYPN):c.56G>A (p.Ser19Asn) rs1379540680 0.00001
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly) rs373095593 0.00001
NM_032578.4(MYPN):c.625T>C (p.Ser209Pro) rs794729071 0.00001
NM_032578.4(MYPN):c.636C>T (p.Pro212=) rs748061439 0.00001
NM_032578.4(MYPN):c.683T>C (p.Leu228Pro) rs377392207 0.00001
NM_032578.4(MYPN):c.69A>C (p.Glu23Asp) rs1200405630 0.00001
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr) rs755212697 0.00001
NM_032578.4(MYPN):c.725C>T (p.Ala242Val) rs1232532993 0.00001
NM_032578.4(MYPN):c.736G>A (p.Ala246Thr) rs756677221 0.00001
NM_032578.4(MYPN):c.751A>G (p.Thr251Ala) rs773860716 0.00001
NM_032578.4(MYPN):c.766C>T (p.Pro256Ser) rs1352606923 0.00001
NM_032578.4(MYPN):c.79C>G (p.Arg27Gly) rs754754810 0.00001
NM_032578.4(MYPN):c.809G>T (p.Arg270Leu) rs1187626834 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_032578.4(MYPN):c.827G>A (p.Arg276Gln) rs771703762 0.00001
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys) rs1265232754 0.00001
NM_032578.4(MYPN):c.858A>G (p.Val286=) rs924022007 0.00001
NM_032578.4(MYPN):c.859C>A (p.Gln287Lys) rs2042258039 0.00001
NM_032578.4(MYPN):c.865G>T (p.Asp289Tyr) rs201460662 0.00001
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys) rs1299051222 0.00001
NM_032578.4(MYPN):c.903-18A>T rs775857947 0.00001
NM_032578.4(MYPN):c.903-3C>A rs1172497360 0.00001
NM_032578.4(MYPN):c.903-4G>T rs886039040 0.00001
NM_032578.4(MYPN):c.951C>A (p.Ile317=) rs759998419 0.00001
NM_032578.4(MYPN):c.975A>G (p.Ser325=) rs1158590887 0.00001
NM_032578.4(MYPN):c.987G>A (p.Ala329=) rs199931312 0.00001
GRCh37/hg19 10q21.3(chr10:69933771-69935269)x0
NC_000010.10:g.(?_69868190)_(69972774_?)dup
NC_000010.10:g.(?_69881176)_(69905303_?)dup
NC_000010.10:g.(?_69881176)_(69970232_?)dup
NC_000010.10:g.(?_69881185)_(69971784_?)dup
NC_000010.10:g.(?_69881196)_(69970212_?)dup
NC_000010.10:g.(?_69902677)_(69908244_?)dup
NC_000010.10:g.(?_69909777)_(69909888_?)del
NC_000010.10:g.(?_69918233)_(69926433_?)del
NC_000010.10:g.(?_69918241)_(69919957_?)dup
NC_000010.10:g.(?_69961566)_(69961771_?)del
NC_000010.11:g.(?_68161709)_(68161772_?)del
NC_000010.11:g.(?_68161719)_(68161762_?)del
NM_032578.4(MYPN):c.100C>A (p.Arg34=)
NM_032578.4(MYPN):c.1011A>G (p.Gly337=)
NM_032578.4(MYPN):c.1016A>T (p.Tyr339Phe) rs199476404
NM_032578.4(MYPN):c.1019C>A (p.Ser340Tyr) rs777080663
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.1020C>T (p.Ser340=) rs367548508
NM_032578.4(MYPN):c.1033A>G (p.Asn345Asp) rs757786796
NM_032578.4(MYPN):c.104C>T (p.Ala35Val)
NM_032578.4(MYPN):c.1053G>A (p.Ser351=)
NM_032578.4(MYPN):c.1053G>T (p.Ser351=) rs371306075
NM_032578.4(MYPN):c.1056T>C (p.Thr352=) rs2134066838
NM_032578.4(MYPN):c.105G>C (p.Ala35=)
NM_032578.4(MYPN):c.1078+17T>G
NM_032578.4(MYPN):c.1078G>A (p.Gly360Arg) rs1248269134
NM_032578.4(MYPN):c.1079-17T>C
NM_032578.4(MYPN):c.1079-2A>G
NM_032578.4(MYPN):c.1079-8T>C
NM_032578.4(MYPN):c.1081G>A (p.Val361Ile) rs527628617
NM_032578.4(MYPN):c.1081G>C (p.Val361Leu) rs527628617
NM_032578.4(MYPN):c.1087T>G (p.Ser363Ala) rs775098267
NM_032578.4(MYPN):c.1089T>C (p.Ser363=) rs1589553096
NM_032578.4(MYPN):c.1093G>A (p.Asp365Asn)
NM_032578.4(MYPN):c.109C>T (p.Pro37Ser) rs1048512621
NM_032578.4(MYPN):c.1101A>C (p.Glu367Asp) rs2042648604
NM_032578.4(MYPN):c.1110T>C (p.Pro370=) rs1554842258
NM_032578.4(MYPN):c.1124T>C (p.Met375Thr)
NM_032578.4(MYPN):c.1130+5T>C
NM_032578.4(MYPN):c.1131-19T>C rs2134089256
NM_032578.4(MYPN):c.1131-20A>G
NM_032578.4(MYPN):c.1147G>A (p.Glu383Lys) rs749334556
NM_032578.4(MYPN):c.1161T>A (p.Pro387=)
NM_032578.4(MYPN):c.1164C>T (p.Pro388=) rs2134089520
NM_032578.4(MYPN):c.1170C>T (p.Thr390=)
NM_032578.4(MYPN):c.1180A>T (p.Ile394Phe) rs2134089584
NM_032578.4(MYPN):c.1186C>G (p.Pro396Ala) rs1554842709
NM_032578.4(MYPN):c.1188_1196dup (p.Ala397_Pro399dup) rs2042706109
NM_032578.4(MYPN):c.119A>T (p.Asn40Ile) rs2133993599
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
NM_032578.4(MYPN):c.1217C>T (p.Ala406Val)
NM_032578.4(MYPN):c.121C>A (p.Pro41Thr) rs759400657
NM_032578.4(MYPN):c.1227T>G (p.Arg409=)
NM_032578.4(MYPN):c.1231G>A (p.Ala411Thr)
NM_032578.4(MYPN):c.1246-16G>T rs778467080
NM_032578.4(MYPN):c.1246-5del rs2134097247
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn) rs1008949819
NM_032578.4(MYPN):c.1259C>A (p.Thr420Asn) rs2042741498
NM_032578.4(MYPN):c.1266C>T (p.Tyr422=)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1280A>G (p.Asp427Gly) rs2042741903
NM_032578.4(MYPN):c.128A>G (p.His43Arg) rs752439535
NM_032578.4(MYPN):c.1292T>C (p.Ile431Thr)
NM_032578.4(MYPN):c.1295T>C (p.Ile432Thr) rs1589558640
NM_032578.4(MYPN):c.1304C>T (p.Pro435Leu) rs1416910479
NM_032578.4(MYPN):c.1305T>A (p.Pro435=) rs750672797
NM_032578.4(MYPN):c.1305T>G (p.Pro435=)
NM_032578.4(MYPN):c.1308G>A (p.Val436=)
NM_032578.4(MYPN):c.1317+13T>C rs2042742828
NM_032578.4(MYPN):c.1317+17T>A
NM_032578.4(MYPN):c.1317+17T>C
NM_032578.4(MYPN):c.1317+1G>A rs766502564
NM_032578.4(MYPN):c.1318-12T>A
NM_032578.4(MYPN):c.1318-20C>T rs2042918490
NM_032578.4(MYPN):c.1318-6T>C rs1362864653
NM_032578.4(MYPN):c.1318-8_1318-6del
NM_032578.4(MYPN):c.132C>A (p.Phe44Leu) rs2133993682
NM_032578.4(MYPN):c.1335A>T (p.Ser445=) rs1554844105
NM_032578.4(MYPN):c.1339T>A (p.Ser447Thr)
NM_032578.4(MYPN):c.133G>A (p.Gly45Ser) rs1297861595
NM_032578.4(MYPN):c.1345G>A (p.Gly449Ser) rs1279495838
NM_032578.4(MYPN):c.1345G>T (p.Gly449Cys) rs1279495838
NM_032578.4(MYPN):c.1346G>T (p.Gly449Val)
NM_032578.4(MYPN):c.1362T>G (p.Phe454Leu)
NM_032578.4(MYPN):c.1371A>G (p.Arg457=)
NM_032578.4(MYPN):c.1374A>G (p.Val458=) rs538038536
NM_032578.4(MYPN):c.1375A>G (p.Lys459Glu) rs2042920077
NM_032578.4(MYPN):c.1378G>C (p.Gly460Arg) rs1047977459
NM_032578.4(MYPN):c.1381G>A (p.Ala461Thr)
NM_032578.4(MYPN):c.1386A>T (p.Pro462=)
NM_032578.4(MYPN):c.138T>C (p.Ser46=) rs1010889936
NM_032578.4(MYPN):c.13A>C (p.Ser5Arg) rs1554839140
NM_032578.4(MYPN):c.1407T>C (p.Tyr469=)
NM_032578.4(MYPN):c.140C>G (p.Pro47Arg) rs777446804
NM_032578.4(MYPN):c.1411G>A (p.Glu471Lys) rs2042921189
NM_032578.4(MYPN):c.1416G>A (p.Gly472=)
NM_032578.4(MYPN):c.1418C>G (p.Thr473Ser) rs2134137254
NM_032578.4(MYPN):c.1424T>C (p.Ile475Thr) rs754505802
NM_032578.4(MYPN):c.1426G>A (p.Glu476Lys) rs2134137320
NM_032578.4(MYPN):c.1433C>T (p.Ser478Phe) rs2042921597
NM_032578.4(MYPN):c.1435C>A (p.Pro479Thr)
NM_032578.4(MYPN):c.1441T>G (p.Phe481Val)
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys) rs773665854
NM_032578.4(MYPN):c.144T>C (p.Ser48=)
NM_032578.4(MYPN):c.1455G>A (p.Gln485=) rs954974822
NM_032578.4(MYPN):c.1459+19T>C
NM_032578.4(MYPN):c.1459+8_1459+11del
NM_032578.4(MYPN):c.1460-13T>C
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
NM_032578.4(MYPN):c.1473G>A (p.Met491Ile) rs1437786609
NM_032578.4(MYPN):c.1474G>A (p.Ala492Thr) rs2134151595
NM_032578.4(MYPN):c.1475C>T (p.Ala492Val)
NM_032578.4(MYPN):c.1482A>C (p.Pro494=) rs532744333
NM_032578.4(MYPN):c.1483+22_1483+26del
NM_032578.4(MYPN):c.1483+6G>A rs775382618
NM_032578.4(MYPN):c.1483+9G>A rs760851247
NM_032578.4(MYPN):c.151G>A (p.Ala51Thr)
NM_032578.4(MYPN):c.1521A>G (p.Ala507=) rs2134165606
NM_032578.4(MYPN):c.1523A>G (p.Glu508Gly) rs1554845333
NM_032578.4(MYPN):c.1548T>G (p.Thr516=) rs1589577257
NM_032578.4(MYPN):c.154G>A (p.Glu52Lys) rs2042243248
NM_032578.4(MYPN):c.1577G>T (p.Ser526Ile) rs2134165829
NM_032578.4(MYPN):c.1578C>G (p.Ser526Arg) rs533432953
NM_032578.4(MYPN):c.1578C>T (p.Ser526=)
NM_032578.4(MYPN):c.1584A>C (p.Ala528=) rs1019522813
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter) rs199476408
NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro) rs1158070956
NM_032578.4(MYPN):c.1588C>T (p.Leu530=)
NM_032578.4(MYPN):c.158G>A (p.Gly53Glu)
NM_032578.4(MYPN):c.1600+12T>A rs2134166070
NM_032578.4(MYPN):c.1600+12_1600+13del
NM_032578.4(MYPN):c.1600+18C>T
NM_032578.4(MYPN):c.1600+4A>G rs1589577356
NM_032578.4(MYPN):c.1602A>T (p.Gly534=) rs2134167600
NM_032578.4(MYPN):c.1611C>T (p.Asp537=) rs931476648
NM_032578.4(MYPN):c.1618AAC[3] (p.Asn541dup) rs1428622009
NM_032578.4(MYPN):c.161G>C (p.Gly54Ala)
NM_032578.4(MYPN):c.163G>A (p.Gly55Arg) rs2042243448
NM_032578.4(MYPN):c.1644C>T (p.Asn548=) rs183523848
NM_032578.4(MYPN):c.1650C>T (p.Thr550=)
NM_032578.4(MYPN):c.1653C>T (p.Thr551=)
NM_032578.4(MYPN):c.1655A>G (p.Asn552Ser)
NM_032578.4(MYPN):c.1662A>T (p.Ala554=) rs71584488
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro) rs1187897430
NM_032578.4(MYPN):c.1681_1683del (p.Ser561del)
NM_032578.4(MYPN):c.1688C>T (p.Pro563Leu) rs899747855
NM_032578.4(MYPN):c.1714C>G (p.Gln572Glu)
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
NM_032578.4(MYPN):c.1717C>T (p.Pro573Ser) rs779895608
NM_032578.4(MYPN):c.1719C>T (p.Pro573=)
NM_032578.4(MYPN):c.1720C>G (p.Pro574Ala)
NM_032578.4(MYPN):c.1721C>G (p.Pro574Arg) rs1240696321
NM_032578.4(MYPN):c.1722C>A (p.Pro574=)
NM_032578.4(MYPN):c.1722C>T (p.Pro574=) rs1003969153
NM_032578.4(MYPN):c.1722del (p.Lys575fs) rs2134168183
NM_032578.4(MYPN):c.172G>A (p.Asp58Asn)
NM_032578.4(MYPN):c.1741G>T (p.Val581Phe) rs1464184643
NM_032578.4(MYPN):c.1751A>G (p.Asn584Ser) rs2043055172
NM_032578.4(MYPN):c.1776C>T (p.Ser592=)
NM_032578.4(MYPN):c.1781T>C (p.Ile594Thr)
NM_032578.4(MYPN):c.17T>C (p.Ile6Thr) rs774766927
NM_032578.4(MYPN):c.1802A>G (p.Asn601Ser) rs2043056360
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro) rs779148735
NM_032578.4(MYPN):c.1830A>G (p.Glu610=) rs769460067
NM_032578.4(MYPN):c.1831G>A (p.Ala611Thr) rs199476409
NM_032578.4(MYPN):c.1845T>C (p.Ala615=)
NM_032578.4(MYPN):c.1859C>G (p.Thr620Ser) rs958954733
NM_032578.4(MYPN):c.1864C>G (p.Gln622Glu) rs1226400049
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter) rs1226400049
NM_032578.4(MYPN):c.1865A>G (p.Gln622Arg) rs2134169106
NM_032578.4(MYPN):c.1867A>T (p.Thr623Ser)
NM_032578.4(MYPN):c.186T>C (p.Asp62=) rs374434233
NM_032578.4(MYPN):c.1875C>G (p.Pro625=) rs2673793
NM_032578.4(MYPN):c.1887G>A (p.Gln629=) rs1253237224
NM_032578.4(MYPN):c.1891A>G (p.Arg631Gly) rs2134169305
NM_032578.4(MYPN):c.189T>C (p.Leu63=) rs2133993954
NM_032578.4(MYPN):c.1910dup (p.Thr639fs) rs2134169413
NM_032578.4(MYPN):c.1924C>T (p.Pro642Ser)
NM_032578.4(MYPN):c.1932C>A (p.Ser644=) rs187664226
NM_032578.4(MYPN):c.194C>A (p.Ala65Asp) rs147553723
NM_032578.4(MYPN):c.1951C>A (p.Pro651Thr)
NM_032578.4(MYPN):c.1952C>T (p.Pro651Leu)
NM_032578.4(MYPN):c.195C>A (p.Ala65=)
NM_032578.4(MYPN):c.195C>T (p.Ala65=)
NM_032578.4(MYPN):c.1973+1G>A
NM_032578.4(MYPN):c.1973+1G>C
NM_032578.4(MYPN):c.1974-13G>C
NM_032578.4(MYPN):c.1974-1G>A
NM_032578.4(MYPN):c.1974-20C>T
NM_032578.4(MYPN):c.1974-2A>C
NM_032578.4(MYPN):c.1974-3C>T
NM_032578.4(MYPN):c.1977T>C (p.Asp659=) rs886039179
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter) rs2134198422
NM_032578.4(MYPN):c.1999C>A (p.His667Asn) rs1232931575
NM_032578.4(MYPN):c.2003A>T (p.Asn668Ile) rs1554846764
NM_032578.4(MYPN):c.2003del (p.Asn668fs) rs1057519570
NM_032578.4(MYPN):c.2015T>C (p.Leu672Pro) rs750020097
NM_032578.4(MYPN):c.2018A>G (p.Glu673Gly)
NM_032578.4(MYPN):c.2022A>T (p.Gln674His) rs1589587222
NM_032578.4(MYPN):c.2025C>T (p.His675=)
NM_032578.4(MYPN):c.2028A>G (p.Gln676=) rs876657537
NM_032578.4(MYPN):c.2042C>G (p.Pro681Arg) rs202084832
NM_032578.4(MYPN):c.2048C>T (p.Ser683Leu) rs1278724548
NM_032578.4(MYPN):c.2049A>C (p.Ser683=)
NM_032578.4(MYPN):c.204C>G (p.Ser68Arg)
NM_032578.4(MYPN):c.204C>T (p.Ser68=) rs1035588500
NM_032578.4(MYPN):c.2065C>T (p.Pro689Ser)
NM_032578.4(MYPN):c.2066C>T (p.Pro689Leu) rs1554846787
NM_032578.4(MYPN):c.2067T>A (p.Pro689=) rs2134198866
NM_032578.4(MYPN):c.2074A>G (p.Met692Val) rs1589587340
NM_032578.4(MYPN):c.2076G>T (p.Met692Ile)
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
NM_032578.4(MYPN):c.2089T>G (p.Ser697Ala) rs2043187783
NM_032578.4(MYPN):c.2106G>T (p.Ala702=) rs560387426
NM_032578.4(MYPN):c.2108T>C (p.Val703Ala) rs2043188479
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
NM_032578.4(MYPN):c.2126A>G (p.Gln709Arg) rs2134199222
NM_032578.4(MYPN):c.2134G>T (p.Ala712Ser)
NM_032578.4(MYPN):c.2151G>C (p.Thr717=)
NM_032578.4(MYPN):c.2157C>T (p.Ser719=)
NM_032578.4(MYPN):c.2164C>G (p.Arg722Gly) rs749716608
NM_032578.4(MYPN):c.2165G>A (p.Arg722Gln) rs530701227
NM_032578.4(MYPN):c.2169G>A (p.Pro723=) rs149357638
NM_032578.4(MYPN):c.216A>G (p.Leu72=) rs960256597
NM_032578.4(MYPN):c.217G>C (p.Asp73His) rs2042244267
NM_032578.4(MYPN):c.2183C>A (p.Pro728His) rs570682390
NM_032578.4(MYPN):c.2183C>T (p.Pro728Leu) rs570682390
NM_032578.4(MYPN):c.2186C>T (p.Ser729Phe) rs1210466686
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg) rs373040567
NM_032578.4(MYPN):c.2190G>T (p.Thr730=)
NM_032578.4(MYPN):c.2199C>A (p.Thr733=)
NM_032578.4(MYPN):c.219C>A (p.Asp73Glu) rs960869945
NM_032578.4(MYPN):c.219C>T (p.Asp73=)
NM_032578.4(MYPN):c.21A>C (p.Glu7Asp) rs759945622
NM_032578.4(MYPN):c.2216C>T (p.Pro739Leu) rs2134199742
NM_032578.4(MYPN):c.2219C>T (p.Ser740Phe)
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln) rs138583865
NM_032578.4(MYPN):c.2229G>C (p.Pro743=) rs148360410
NM_032578.4(MYPN):c.222A>C (p.Glu74Asp) rs2042244450
NM_032578.4(MYPN):c.2235C>T (p.Phe745=)
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
NM_032578.4(MYPN):c.2251C>T (p.Pro751Ser)
NM_032578.4(MYPN):c.225T>C (p.Ser75=)
NM_032578.4(MYPN):c.2265G>C (p.Gln755His) rs2043192248
NM_032578.4(MYPN):c.2280A>G (p.Lys760=) rs2134200136
NM_032578.4(MYPN):c.2294T>C (p.Val765Ala) rs759184337
NM_032578.4(MYPN):c.2294T>G (p.Val765Gly) rs759184337
NM_032578.4(MYPN):c.2297C>G (p.Ser766Cys) rs2043192805
NM_032578.4(MYPN):c.2299C>T (p.His767Tyr) rs2134200267
NM_032578.4(MYPN):c.22G>A (p.Ala8Thr) rs2042239747
NM_032578.4(MYPN):c.22G>C (p.Ala8Pro) rs2042239747
NM_032578.4(MYPN):c.2302C>G (p.Pro768Ala) rs772356751
NM_032578.4(MYPN):c.2314A>G (p.Thr772Ala) rs1060503577
NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu) rs760331604
NM_032578.4(MYPN):c.2319A>T (p.Lys773Asn) rs1468437257
NM_032578.4(MYPN):c.2322T>A (p.Ser774=)
NM_032578.4(MYPN):c.2337C>T (p.Ser779=) rs2134200452
NM_032578.4(MYPN):c.2344A>G (p.Asn782Asp) rs765596732
NM_032578.4(MYPN):c.2351C>G (p.Pro784Arg)
NM_032578.4(MYPN):c.2353C>T (p.Leu785Phe) rs2043194035
NM_032578.4(MYPN):c.2354T>A (p.Leu785His) rs758614811
NM_032578.4(MYPN):c.2362G>C (p.Gly788Arg) rs2043194185
NM_032578.4(MYPN):c.2370A>G (p.Thr790=) rs2134200602
NM_032578.4(MYPN):c.237A>G (p.Ala79=)
NM_032578.4(MYPN):c.2384C>G (p.Pro795Arg) rs747076390
NM_032578.4(MYPN):c.2385A>G (p.Pro795=)
NM_032578.4(MYPN):c.2388A>G (p.Pro796=)
NM_032578.4(MYPN):c.239G>A (p.Arg80Lys) rs1564647073
NM_032578.4(MYPN):c.2407A>G (p.Ser803Gly) rs1479692619
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.2409C>T (p.Ser803=)
NM_032578.4(MYPN):c.2421T>C (p.Phe807=)
NM_032578.4(MYPN):c.2427C>T (p.Pro809=)
NM_032578.4(MYPN):c.2429G>C (p.Arg810Pro) rs1021994218
NM_032578.4(MYPN):c.242T>C (p.Leu81Pro)
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala) rs1131691857
NM_032578.4(MYPN):c.243G>A (p.Leu81=) rs2133994150
NM_032578.4(MYPN):c.2440C>A (p.Pro814Thr) rs2134201155
NM_032578.4(MYPN):c.2442A>T (p.Pro814=)
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val) rs876657922
NM_032578.4(MYPN):c.2463C>T (p.Ser821=) rs2134201312
NM_032578.4(MYPN):c.2467A>G (p.Ile823Val) rs2134201357
NM_032578.4(MYPN):c.2474A>G (p.Asn825Ser)
NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr) rs546434497
NM_032578.4(MYPN):c.2484T>C (p.Ala828=)
NM_032578.4(MYPN):c.2487C>T (p.Phe829=) rs2043197476
NM_032578.4(MYPN):c.2495C>T (p.Ser832Phe) rs1416050336
NM_032578.4(MYPN):c.2502G>T (p.Leu834=)
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr) rs1196958004
NM_032578.4(MYPN):c.2519T>C (p.Ile840Thr) rs1554846944
NM_032578.4(MYPN):c.2521C>A (p.Pro841Thr) rs199476410
NM_032578.4(MYPN):c.2527A>T (p.Thr843Ser) rs2134201674
NM_032578.4(MYPN):c.2530A>G (p.Asn844Asp) rs2134201696
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu) rs181848049
NM_032578.4(MYPN):c.254A>G (p.Tyr85Cys)
NM_032578.4(MYPN):c.2550A>G (p.Arg850=) rs886039109
NM_032578.4(MYPN):c.2564+16G>T rs1473150031
NM_032578.4(MYPN):c.2565-17G>A rs1334366122
NM_032578.4(MYPN):c.2565-19G>C
NM_032578.4(MYPN):c.2565-2A>G rs746850858
NM_032578.4(MYPN):c.2569T>A (p.Ser857Thr)
NM_032578.4(MYPN):c.2573A>G (p.Gln858Arg) rs2134204422
NM_032578.4(MYPN):c.2582C>T (p.Ala861Val)
NM_032578.4(MYPN):c.2598_2703+9delinsCAACAATC
NM_032578.4(MYPN):c.2601T>C (p.Ser867=) rs771473380
NM_032578.4(MYPN):c.2617G>T (p.Asp873Tyr) rs767769379
NM_032578.4(MYPN):c.2622T>C (p.Asp874=)
NM_032578.4(MYPN):c.2623A>G (p.Asn875Asp) rs760957828
NM_032578.4(MYPN):c.2628T>A (p.Ile876=)
NM_032578.4(MYPN):c.2630G>A (p.Arg877His) rs371221569
NM_032578.4(MYPN):c.2644G>T (p.Ala882Ser) rs199476411
NM_032578.4(MYPN):c.2659T>C (p.Leu887=) rs2134204846
NM_032578.4(MYPN):c.2662G>A (p.Gly888Arg)
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter) rs2134204980
NM_032578.4(MYPN):c.2702A>C (p.Gln901Pro)
NM_032578.4(MYPN):c.2703+17_2703+18delinsCG rs2134205089
NM_032578.4(MYPN):c.2703+3A>T
NM_032578.4(MYPN):c.2704-17G>C
NM_032578.4(MYPN):c.2704-18C>T
NM_032578.4(MYPN):c.2704-1G>A rs865921466
NM_032578.4(MYPN):c.2704-7T>G rs1589602602
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032578.4(MYPN):c.2726A>G (p.Glu909Gly)
NM_032578.4(MYPN):c.2733G>A (p.Arg911=) rs1060504954
NM_032578.4(MYPN):c.2736G>A (p.Leu912=) rs1057523127
NM_032578.4(MYPN):c.2755C>T (p.Arg919Cys) rs189478865
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu) rs193022869
NM_032578.4(MYPN):c.2765G>A (p.Arg922His) rs2043465909
NM_032578.4(MYPN):c.2794A>G (p.Ile932Val) rs2134257485
NM_032578.4(MYPN):c.2799A>G (p.Gln933=)
NM_032578.4(MYPN):c.2802T>C (p.His934=)
NM_032578.4(MYPN):c.2808G>T (p.Glu936Asp) rs753424932
NM_032578.4(MYPN):c.2815A>G (p.Thr939Ala)
NM_032578.4(MYPN):c.2817G>A (p.Thr939=)
NM_032578.4(MYPN):c.2817G>C (p.Thr939=)
NM_032578.4(MYPN):c.2829T>G (p.Ile943Met) rs2043467180
NM_032578.4(MYPN):c.2847G>A (p.Lys949=) rs2134257828
NM_032578.4(MYPN):c.2850A>C (p.Arg950Ser)
NM_032578.4(MYPN):c.2859C>T (p.His953=)
NM_032578.4(MYPN):c.2862C>A (p.Phe954Leu) rs199476413
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.2871A>C (p.Thr957=)
NM_032578.4(MYPN):c.2873A>G (p.Glu958Gly) rs1417809776
NM_032578.4(MYPN):c.2876G>C (p.Gly959Ala) rs771893315
NM_032578.4(MYPN):c.2879C>T (p.Ser960Phe)
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032578.4(MYPN):c.2895C>T (p.Thr965=) rs2134258213
NM_032578.4(MYPN):c.2917G>C (p.Val973Leu) rs1223935683
NM_032578.4(MYPN):c.2925+11T>G
NM_032578.4(MYPN):c.2925G>T (p.Lys975Asn) rs2134258333
NM_032578.4(MYPN):c.2926-17A>T
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe) rs943422668
NM_032578.4(MYPN):c.2949G>A (p.Lys983=) rs375015526
NM_032578.4(MYPN):c.2952G>A (p.Gln984=)
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032578.4(MYPN):c.2963G>A (p.Arg988Lys) rs2134277689
NM_032578.4(MYPN):c.2967T>C (p.Asn989=) rs751078168
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) rs755507922
NM_032578.4(MYPN):c.2981T>G (p.Met994Arg) rs786205348
NM_032578.4(MYPN):c.2986C>A (p.Arg996=) rs753094063
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
NM_032578.4(MYPN):c.2988A>G (p.Arg996=) rs1589607174
NM_032578.4(MYPN):c.2998G>A (p.Gly1000Arg)
NM_032578.4(MYPN):c.2998G>C (p.Gly1000Arg)
NM_032578.4(MYPN):c.2999G>A (p.Gly1000Glu) rs2134277900
NM_032578.4(MYPN):c.3000G>A (p.Gly1000=) rs757445753
NM_032578.4(MYPN):c.3003A>G (p.Thr1001=) rs2134277927
NM_032578.4(MYPN):c.3006C>G (p.Cys1002Trp) rs1321971649
NM_032578.4(MYPN):c.3008C>T (p.Ser1003Phe)
NM_032578.4(MYPN):c.3017T>C (p.Ile1006Thr) rs864622711
NM_032578.4(MYPN):c.3076-17C>G rs749100162
NM_032578.4(MYPN):c.3076-17C>T
NM_032578.4(MYPN):c.3076-2A>C rs1057519571
NM_032578.4(MYPN):c.3076-4T>A
NM_032578.4(MYPN):c.307G>A (p.Asp103Asn) rs2042246065
NM_032578.4(MYPN):c.3091T>C (p.Ser1031Pro) rs2134281687
NM_032578.4(MYPN):c.3099C>G (p.His1033Gln)
NM_032578.4(MYPN):c.3099C>T (p.His1033=) rs1486921301
NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala) rs1554850184
NM_032578.4(MYPN):c.3116T>G (p.Leu1039Trp)
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.4(MYPN):c.3127del (p.Ser1043fs) rs1589608098
NM_032578.4(MYPN):c.3131G>T (p.Arg1044Leu)
NM_032578.4(MYPN):c.3137C>T (p.Thr1046Ile) rs1589608140
NM_032578.4(MYPN):c.3138C>T (p.Thr1046=) rs2043589814
NM_032578.4(MYPN):c.3146G>A (p.Gly1049Asp) rs878855165
NM_032578.4(MYPN):c.3158+14G>A rs2043590750
NM_032578.4(MYPN):c.3158+18_3158+19del
NM_032578.4(MYPN):c.3158+1G>A
NM_032578.4(MYPN):c.3158+6G>T
NM_032578.4(MYPN):c.3158+9A>T
NM_032578.4(MYPN):c.3159-18A>G rs2134289672
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln) rs150414382
NM_032578.4(MYPN):c.3186C>T (p.Asp1062=)
NM_032578.4(MYPN):c.3193C>A (p.Pro1065Thr) rs1423549696
NM_032578.4(MYPN):c.3195C>T (p.Pro1065=)
NM_032578.4(MYPN):c.3197T>C (p.Leu1066Pro) rs2043626849
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser) rs368448794
NM_032578.4(MYPN):c.3205C>T (p.Arg1069Cys) rs368448794
NM_032578.4(MYPN):c.3206G>T (p.Arg1069Leu) rs763362861
NM_032578.4(MYPN):c.3207C>T (p.Arg1069=)
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) rs1057519573
NM_032578.4(MYPN):c.3237T>C (p.Pro1079=) rs2134290278
NM_032578.4(MYPN):c.3240G>A (p.Gly1080=) rs2134290293
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
NM_032578.4(MYPN):c.3245T>C (p.Met1082Thr)
NM_032578.4(MYPN):c.3247G>A (p.Val1083Ile) rs765335692
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys) rs372824930
NM_032578.4(MYPN):c.3267C>T (p.Leu1089=)
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.3285+18T>C
NM_032578.4(MYPN):c.3285+20C>A
NM_032578.4(MYPN):c.3285+3A>G
NM_032578.4(MYPN):c.3286-10T>C rs2134299174
NM_032578.4(MYPN):c.3286-17G>A
NM_032578.4(MYPN):c.3286-18T>C
NM_032578.4(MYPN):c.3286-18_3286-17insA
NM_032578.4(MYPN):c.329A>C (p.Asn110Thr) rs1060503575
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr) rs1284303981
NM_032578.4(MYPN):c.3301C>T (p.Pro1101Ser)
NM_032578.4(MYPN):c.3302C>T (p.Pro1101Leu) rs2043669159
NM_032578.4(MYPN):c.3306G>A (p.Pro1102=) rs771521427
NM_032578.4(MYPN):c.3306G>T (p.Pro1102=) rs771521427
NM_032578.4(MYPN):c.3323T>G (p.Leu1108Arg) rs1035710752
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278
NM_032578.4(MYPN):c.3344C>T (p.Pro1115Leu)
NM_032578.4(MYPN):c.3349G>T (p.Ala1117Ser)
NM_032578.4(MYPN):c.3354C>G (p.Ser1118=) rs1589611936
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
NM_032578.4(MYPN):c.3382G>A (p.Val1128Ile) rs2043671303
NM_032578.4(MYPN):c.3385C>A (p.His1129Asn) rs952331931
NM_032578.4(MYPN):c.3386A>G (p.His1129Arg) rs755783155
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs) rs2134300034
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
NM_032578.4(MYPN):c.340G>C (p.Glu114Gln)
NM_032578.4(MYPN):c.3414G>A (p.Gln1138=)
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
NM_032578.4(MYPN):c.3416G>T (p.Arg1139Leu) rs531222847
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=) rs144488384
NM_032578.4(MYPN):c.3423A>G (p.Ala1141=) rs776844468
NM_032578.4(MYPN):c.3431A>G (p.Tyr1144Cys) rs1589612099
NM_032578.4(MYPN):c.3440T>C (p.Ile1147Thr) rs201600440
NM_032578.4(MYPN):c.3442G>A (p.Ala1148Thr) rs200390297
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser) rs200390297
NM_032578.4(MYPN):c.3467C>A (p.Ser1156Tyr)
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln) rs1422495386
NM_032578.4(MYPN):c.3484T>C (p.Ser1162Pro) rs2134300719
NM_032578.4(MYPN):c.3485C>T (p.Ser1162Phe)
NM_032578.4(MYPN):c.3493+14del rs794729069
NM_032578.4(MYPN):c.3493+15_3493+20del rs11279655
NM_032578.4(MYPN):c.3493+6G>A rs750903219
NM_032578.4(MYPN):c.3493+9T>C rs2134300845
NM_032578.4(MYPN):c.3493+9T>G
NM_032578.4(MYPN):c.3494-14C>T rs776204291
NM_032578.4(MYPN):c.3494-14del rs752408270
NM_032578.4(MYPN):c.3494-15C>T
NM_032578.4(MYPN):c.3494-6G>A rs768274852
NM_032578.4(MYPN):c.3494-9C>T
NM_032578.4(MYPN):c.34A>G (p.Ile12Val) rs1564646814
NM_032578.4(MYPN):c.3512C>T (p.Ala1171Val) rs2043718976
NM_032578.4(MYPN):c.3514C>T (p.Pro1172Ser)
NM_032578.4(MYPN):c.3518T>C (p.Val1173Ala) rs781710211
NM_032578.4(MYPN):c.3522C>T (p.Ile1174=)
NM_032578.4(MYPN):c.3540C>A (p.Asn1180Lys) rs2134311033
NM_032578.4(MYPN):c.3548T>C (p.Val1183Ala) rs878855166
NM_032578.4(MYPN):c.3552C>G (p.Pro1184=) rs749396604
NM_032578.4(MYPN):c.3561C>T (p.His1187=) rs1386215092
NM_032578.4(MYPN):c.3569G>C (p.Arg1190Thr) rs761506496
NM_032578.4(MYPN):c.356A>G (p.Gln119Arg) rs1338413507
NM_032578.4(MYPN):c.3570A>C (p.Arg1190Ser) rs373439318
NM_032578.4(MYPN):c.3576G>A (p.Glu1192=) rs1487958900
NM_032578.4(MYPN):c.3577T>A (p.Cys1193Ser)
NM_032578.4(MYPN):c.3586A>G (p.Ile1196Val) rs375595742
NM_032578.4(MYPN):c.3592A>G (p.Met1198Val)
NM_032578.4(MYPN):c.3598C>A (p.Pro1200Thr) rs2134311541
NM_032578.4(MYPN):c.3601C>T (p.Pro1201Ser) rs2134311572
NM_032578.4(MYPN):c.3609C>A (p.Phe1203Leu) rs2134311623
NM_032578.4(MYPN):c.361A>G (p.Asn121Asp) rs2133994576
NM_032578.4(MYPN):c.3632C>A (p.Thr1211Asn) rs2043722750
NM_032578.4(MYPN):c.3632C>T (p.Thr1211Ile)
NM_032578.4(MYPN):c.363C>G (p.Asn121Lys)
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_032578.4(MYPN):c.3658A>G (p.Ser1220Gly) rs1252747604
NM_032578.4(MYPN):c.3659+13C>T
NM_032578.4(MYPN):c.3660-12_3660-9del rs2043822171
NM_032578.4(MYPN):c.3660-1G>A
NM_032578.4(MYPN):c.3660-2A>C
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val) rs1564702434
NM_032578.4(MYPN):c.3663G>A (p.Met1221Ile) rs1564702438
NM_032578.4(MYPN):c.3679G>A (p.Gly1227Arg) rs2043822926
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter) rs2133994592
NM_032578.4(MYPN):c.3687C>T (p.Ala1229=) rs2043823035
NM_032578.4(MYPN):c.3696C>T (p.Leu1232=) rs2134338214
NM_032578.4(MYPN):c.3702G>A (p.Gln1234=)
NM_032578.4(MYPN):c.3704C>A (p.Pro1235Gln)
NM_032578.4(MYPN):c.3718G>A (p.Asp1240Asn)
NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr) rs1340955437
NM_032578.4(MYPN):c.3722C>A (p.Ala1241Asp)
NM_032578.4(MYPN):c.3735G>A (p.Thr1245=)
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=) rs184347775
NM_032578.4(MYPN):c.3738G>A (p.Leu1246=)
NM_032578.4(MYPN):c.3738G>T (p.Leu1246Phe)
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala) rs2133994610
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) rs2043824248
NM_032578.4(MYPN):c.3762C>T (p.Ile1254=)
NM_032578.4(MYPN):c.3764T>G (p.Val1255Gly)
NM_032578.4(MYPN):c.3765G>A (p.Val1255=)
NM_032578.4(MYPN):c.3779G>A (p.Arg1260Lys) rs2134338662
NM_032578.4(MYPN):c.3786T>C (p.Asp1262=) rs993063021
NM_032578.4(MYPN):c.3793+17T>C
NM_032578.4(MYPN):c.3793+8T>C
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) rs199476416
NM_032578.4(MYPN):c.3793G>C (p.Ala1265Pro) rs199476416
NM_032578.4(MYPN):c.3793G>T (p.Ala1265Ser) rs199476416
NM_032578.4(MYPN):c.3794-13G>A rs1004183832
NM_032578.4(MYPN):c.3794-19T>C
NM_032578.4(MYPN):c.3794-19T>G rs1448398956
NM_032578.4(MYPN):c.3794-1G>A
NM_032578.4(MYPN):c.3794-9A>C rs1589622747
NM_032578.4(MYPN):c.3794-9A>T
NM_032578.4(MYPN):c.3805C>G (p.His1269Asp) rs746600159
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) rs730880169
NM_032578.4(MYPN):c.3813C>G (p.Ile1271Met) rs777067913
NM_032578.4(MYPN):c.3813C>T (p.Ile1271=)
NM_032578.4(MYPN):c.3815C>T (p.Pro1272Leu) rs1554852276
NM_032578.4(MYPN):c.3824T>C (p.Met1275Thr) rs370197106
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile) rs777519016
NM_032578.4(MYPN):c.3826T>A (p.Ser1276Thr) rs2043888970
NM_032578.4(MYPN):c.3829G>A (p.Val1277Ile) rs2043889024
NM_032578.4(MYPN):c.3831C>T (p.Val1277=)
NM_032578.4(MYPN):c.3832C>A (p.Arg1278=) rs763054747
NM_032578.4(MYPN):c.3836C>T (p.Pro1279Leu)
NM_032578.4(MYPN):c.3838A>G (p.Ser1280Gly) rs1589622883
NM_032578.4(MYPN):c.3852C>T (p.Tyr1284=)
NM_032578.4(MYPN):c.3858T>A (p.Ser1286=) rs2134357177
NM_032578.4(MYPN):c.3859C>G (p.Leu1287Val)
NM_032578.4(MYPN):c.3861C>T (p.Leu1287=) rs2134357185
NM_032578.4(MYPN):c.3867T>C (p.Ser1289=)
NM_032578.4(MYPN):c.3871G>A (p.Gly1291Arg) rs2043890485
NM_032578.4(MYPN):c.3872G>C (p.Gly1291Ala)
NM_032578.4(MYPN):c.3877G>A (p.Asp1293Asn) rs1554852297
NM_032578.4(MYPN):c.3879C>T (p.Asp1293=)
NM_032578.4(MYPN):c.3880A>G (p.Ile1294Val) rs1246586000
NM_032578.4(MYPN):c.3881T>C (p.Ile1294Thr) rs2134357329
NM_032578.4(MYPN):c.3896C>T (p.Ser1299Phe)
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe) rs1564704607
NM_032578.4(MYPN):c.38C>G (p.Ser13Cys) rs775838889
NM_032578.4(MYPN):c.3904G>A (p.Glu1302Lys)
NM_032578.4(MYPN):c.3904G>T (p.Glu1302Ter)
NM_032578.4(MYPN):c.3912G>A (p.Thr1304=) rs1405000820
NM_032578.4(MYPN):c.3914T>C (p.Met1305Thr) rs774564158
NM_032578.4(MYPN):c.3915G>A (p.Met1305Ile) rs2043891482
NM_032578.4(MYPN):c.3920A>G (p.Tyr1307Cys) rs2134357583
NM_032578.4(MYPN):c.3936G>A (p.Arg1312=)
NM_032578.4(MYPN):c.3939T>C (p.Ser1313=)
NM_032578.4(MYPN):c.3939T>G (p.Ser1313Arg)
NM_032578.4(MYPN):c.3960T>G (p.Leu1320=)
NM_032578.4(MYPN):c.3963A>G (p.Ter1321=) rs539338042
NM_032578.4(MYPN):c.396C>T (p.Pro132=)
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly) rs141983653
NM_032578.4(MYPN):c.418T>C (p.Tyr140His) rs2133994804
NM_032578.4(MYPN):c.421T>C (p.Cys141Arg) rs2042248173
NM_032578.4(MYPN):c.422G>T (p.Cys141Phe)
NM_032578.4(MYPN):c.424T>C (p.Ser142Pro) rs2133994828
NM_032578.4(MYPN):c.435G>A (p.Gln145=) rs2133994889
NM_032578.4(MYPN):c.459G>T (p.Lys153Asn) rs1589528746
NM_032578.4(MYPN):c.465C>A (p.Ala155=) rs142867001
NM_032578.4(MYPN):c.486C>T (p.Ser162=)
NM_032578.4(MYPN):c.489C>T (p.Ser163=) rs1277548524
NM_032578.4(MYPN):c.502C>G (p.His168Asp) rs1369595385
NM_032578.4(MYPN):c.502C>T (p.His168Tyr)
NM_032578.4(MYPN):c.504C>A (p.His168Gln) rs2042249528
NM_032578.4(MYPN):c.518T>A (p.Ile173Asn) rs2042249791
NM_032578.4(MYPN):c.519T>C (p.Ile173=) rs769771296
NM_032578.4(MYPN):c.548G>A (p.Ser183Asn)
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.557A>C (p.Glu186Ala)
NM_032578.4(MYPN):c.55_56del (p.Ser19fs)
NM_032578.4(MYPN):c.566A>T (p.Asn189Ile) rs1589528864
NM_032578.4(MYPN):c.570A>C (p.Lys190Asn) rs1163308868
NM_032578.4(MYPN):c.589T>C (p.Ser197Pro)
NM_032578.4(MYPN):c.591C>T (p.Ser197=) rs374950923
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn) rs1454105180
NM_032578.4(MYPN):c.602A>C (p.Asp201Ala) rs754204322
NM_032578.4(MYPN):c.608C>A (p.Ser203Ter) rs2133995502
NM_032578.4(MYPN):c.614G>A (p.Arg205Lys) rs2133995521
NM_032578.4(MYPN):c.616C>A (p.Arg206=)
NM_032578.4(MYPN):c.617G>A (p.Arg206Gln)
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del) rs749944961
NM_032578.4(MYPN):c.634C>G (p.Pro212Ala)
NM_032578.4(MYPN):c.637A>G (p.Ile213Val) rs199476402
NM_032578.4(MYPN):c.640C>G (p.Pro214Ala) rs2133995680
NM_032578.4(MYPN):c.643A>G (p.Ile215Val)
NM_032578.4(MYPN):c.644T>A (p.Ile215Asn) rs1369263795
NM_032578.4(MYPN):c.649G>A (p.Ala217Thr) rs2133995746
NM_032578.4(MYPN):c.650C>A (p.Ala217Glu) rs199476403
NM_032578.4(MYPN):c.651G>A (p.Ala217=) rs2042252455
NM_032578.4(MYPN):c.662A>G (p.Asp221Gly) rs185841477
NM_032578.4(MYPN):c.662A>T (p.Asp221Val) rs185841477
NM_032578.4(MYPN):c.671T>C (p.Val224Ala) rs1554839341
NM_032578.4(MYPN):c.674A>G (p.Asn225Ser)
NM_032578.4(MYPN):c.678C>T (p.His226=) rs1458929239
NM_032578.4(MYPN):c.680C>A (p.Ala227Asp) rs148874991
NM_032578.4(MYPN):c.682C>G (p.Leu228Val)
NM_032578.4(MYPN):c.682C>T (p.Leu228=)
NM_032578.4(MYPN):c.687A>G (p.Glu229=)
NM_032578.4(MYPN):c.688C>T (p.Gln230Ter)
NM_032578.4(MYPN):c.689A>C (p.Gln230Pro) rs2042253320
NM_032578.4(MYPN):c.693G>C (p.Gln231His) rs1188978880
NM_032578.4(MYPN):c.701A>G (p.Lys234Arg) rs2133995953
NM_032578.4(MYPN):c.702G>C (p.Lys234Asn) rs1589529109
NM_032578.4(MYPN):c.708T>C (p.Arg236=) rs1023787850
NM_032578.4(MYPN):c.711A>C (p.Glu237Asp)
NM_032578.4(MYPN):c.716_736dup (p.Ala245_Ala246insGluGlnAlaAlaSerGluAla)
NM_032578.4(MYPN):c.718C>G (p.Gln240Glu) rs1438075413
NM_032578.4(MYPN):c.719A>G (p.Gln240Arg)
NM_032578.4(MYPN):c.71C>A (p.Thr24Asn) rs2133993354
NM_032578.4(MYPN):c.720G>C (p.Gln240His) rs2042254307
NM_032578.4(MYPN):c.724G>A (p.Ala242Thr) rs779283631
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) rs794727304
NM_032578.4(MYPN):c.72C>T (p.Thr24=)
NM_032578.4(MYPN):c.732G>A (p.Glu244=)
NM_032578.4(MYPN):c.740G>C (p.Gly247Ala) rs1250584637
NM_032578.4(MYPN):c.741T>A (p.Gly247=)
NM_032578.4(MYPN):c.741T>G (p.Gly247=) rs1589529211
NM_032578.4(MYPN):c.744A>G (p.Gly248=) rs749058723
NM_032578.4(MYPN):c.746A>G (p.Asp249Gly)
NM_032578.4(MYPN):c.746A>T (p.Asp249Val) rs2042254891
NM_032578.4(MYPN):c.767C>A (p.Pro256His) rs2042255659
NM_032578.4(MYPN):c.768T>A (p.Pro256=)
NM_032578.4(MYPN):c.772T>C (p.Ser258Pro) rs1403261361
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)
NM_032578.4(MYPN):c.783T>C (p.Tyr261=)
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly) rs876657924
NM_032578.4(MYPN):c.78T>C (p.His26=)
NM_032578.4(MYPN):c.794T>C (p.Leu265Pro) rs766534329
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr) rs560119421
NM_032578.4(MYPN):c.806C>T (p.Pro269Leu) rs1489529278
NM_032578.4(MYPN):c.807C>T (p.Pro269=)
NM_032578.4(MYPN):c.81G>A (p.Arg27=)
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly) rs745678026
NM_032578.4(MYPN):c.826C>T (p.Arg276Trp)
NM_032578.4(MYPN):c.834A>G (p.Arg278=) rs2133996684
NM_032578.4(MYPN):c.839T>G (p.Val280Gly) rs2042257341
NM_032578.4(MYPN):c.845_847del (p.Glu282del) rs2042257518
NM_032578.4(MYPN):c.84A>C (p.Gly28=) rs2133993422
NM_032578.4(MYPN):c.861G>A (p.Gln287=) rs559908964
NM_032578.4(MYPN):c.883A>T (p.Ile295Phe) rs1554839439
NM_032578.4(MYPN):c.896A>C (p.Gln299Pro)
NM_032578.4(MYPN):c.898G>A (p.Val300Ile) rs1254052635
NM_032578.4(MYPN):c.902+12C>T
NM_032578.4(MYPN):c.902+12_902+26del
NM_032578.4(MYPN):c.903-13del
NM_032578.4(MYPN):c.903-15T>C
NM_032578.4(MYPN):c.903-19C>G
NM_032578.4(MYPN):c.903-20C>A
NM_032578.4(MYPN):c.903-8C>G rs2134066099
NM_032578.4(MYPN):c.917G>A (p.Gly306Asp) rs780873354
NM_032578.4(MYPN):c.925C>G (p.Leu309Val) rs747665161
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032578.4(MYPN):c.946C>A (p.His316Asn) rs2134066274
NM_032578.4(MYPN):c.951C>T (p.Ile317=) rs759998419
NM_032578.4(MYPN):c.960A>G (p.Ala320=) rs2134066348
NM_032578.4(MYPN):c.964A>T (p.Asn322Tyr) rs1060503576
NM_032578.4(MYPN):c.970C>T (p.His324Tyr) rs1589550119
NM_032578.4(MYPN):c.972C>T (p.His324=) rs2134066433
NM_032578.4(MYPN):c.981C>G (p.Thr327=) rs760798332
NM_032578.4(MYPN):c.984T>C (p.Ile328=) rs146899174
NM_032578.4(MYPN):c.992C>G (p.Ala331Gly) rs2134066513
NM_032578.4(MYPN):c.99T>C (p.Ser33=)

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